Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jessica Bolduc"'
Autor:
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction of ELP1 protein, wit
Externí odkaz:
https://doaj.org/article/49c0caa0e9b74228a74623d46ebdae00
Autor:
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/246c128b7d694e8c9750797691095648
Autor:
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://doaj.org/article/5c5eb50256d544b88350b791cab466e7
Autor:
Micaela, Lasser, Jessica, Bolduc, Luke, Murphy, Caroline, O'Brien, Sangmook, Lee, Santhosh, Girirajan, Laura Anne, Lowery
Publikováno v:
Frontiers in genetics. 13
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b59dab21fbabaf60ceb8049cc031ac2e
https://pubmed.ncbi.nlm.nih.gov/35401697
https://pubmed.ncbi.nlm.nih.gov/35401697
Autor:
Harripaul, Ricardo1,2,3 (AUTHOR), Morini, Elisabetta1,2 (AUTHOR), Salani, Monica1 (AUTHOR), Logan, Emily1 (AUTHOR), Kirchner, Emily1 (AUTHOR), Bolduc, Jessica1 (AUTHOR), Chekuri, Anil1,2 (AUTHOR), Currall, Benjamin1,2,3 (AUTHOR), Yadav, Rachita1,2,3 (AUTHOR), Erdin, Serkan1,3 (AUTHOR), Talkowski, Michael E.1,2,3 (AUTHOR), Gao, Dadi1,2 (AUTHOR) dgao2@mgh.harvard.edu, Slaugenhaupt, Susan1,2 (AUTHOR) slaugenhaupt@mgh.harvard.edu
Publikováno v:
Scientific Reports. 5/2/2024, Vol. 14 Issue 1, p1-1. 1p.
Autor:
Harripaul, Ricardo1,2,3 (AUTHOR), Morini, Elisabetta1,2 (AUTHOR), Salani, Monica1 (AUTHOR), Logan, Emily1 (AUTHOR), Kirchner, Emily1 (AUTHOR), Bolduc, Jessica1 (AUTHOR), Chekuri, Anil1,2 (AUTHOR), Currall, Benjamin1,2,3 (AUTHOR), Yadav, Rachita1,2,3 (AUTHOR), Erdin, Serkan1,3 (AUTHOR), Talkowski, Michael E.1,2,3 (AUTHOR), Gao, Dadi1,2 (AUTHOR) dgao2@mgh.harvard.edu, Slaugenhaupt, Susan1,2 (AUTHOR) slaugenhaupt@mgh.harvard.edu
Publikováno v:
Scientific Reports. 5/2/2024, Vol. 14 Issue 1, p1-14. 14p.
Autor:
Lasser, Micaela, Bolduc, Jessica, Murphy, Luke, O'Brien, Caroline, Lee, Sangmook, Girirajan, Santhosh, Lowery, Laura Anne
Publikováno v:
Frontiers in Genetics; 3/24/2022, p1-15, 15p
Publikováno v:
Genomics & Genetics Weekly; 1/26/2024, p970-970, 1p
Autor:
HOCKENOS, PAUL
Publikováno v:
Stanford Social Innovation Review. Winter2018, Vol. 16 Issue 1, p17-(Sp)1. 3p. 2 Color Photographs.